Evidence map›Paper›PMID 40321354›Full record

ArticleCase reports in perinatal medicine2024

Aromatase deficiency due to novel

Aamir Naseem, Muhammad Zahid, Kashan Arshad, Syed Saddam Hussain, Sommayya Aftab, Anjum Saeed, Huma Arshad Cheema

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Case reports in perinatal medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Aamir NaseemDepartment of Pediatric Endocrinology and Diabetes, University of Child Health Sciences, The Children's Hospital Lahore, Lahore, Pakistan.ORCID https://orcid.org/0009-0008-5310-2031
Muhammad ZahidDepartment of Pediatric Endocrinology and Diabetes, University of Child Health Sciences, The Children's Hospital Lahore, Lahore, Pakistan.
Kashan ArshadDepartment of Pediatric Endocrinology and Diabetes, University of Child Health Sciences, The Children's Hospital Lahore, Lahore, Pakistan.
Syed Saddam HussainDepartment of Pediatric Endocrinology and Diabetes, University of Child Health Sciences, The Children's Hospital Lahore, Lahore, Pakistan.
Sommayya AftabDepartment of Pediatric Endocrinology and Diabetes, University of Child Health Sciences, The Children's Hospital Lahore, Lahore, Pakistan.ORCID https://orcid.org/0000-0002-2397-4698
Anjum SaeedDepartment of Pediatric Gastroenterology, Hepatology and Nutrition, University of Child Health Sciences, The Children's Hospital Lahore, Lahore, Pakistan.
Huma Arshad CheemaDepartment of Pediatric Gastroenterology, Hepatology and Nutrition, University of Child Health Sciences, The Children's Hospital Lahore, Lahore, Pakistan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: Aromatase deficiency is a rare autosomal recessive condition due to a mutation in the Case presentation: A 10-day-old newborn presented with atypical genitalia and a history of maternal virilization during pregnancy. On examination, the baby had a Prader score of 3. Further investigation revealed karyotype 46 XX, with a normal uterus and ovaries on ultrasonography. The hormonal profile of the baby was normal except for the raised follicle stimulating hormone (FSH). Maternal ultrasound revealed polycystic ovaries, and the hormonal profile was within the normal range with slightly raised testosterone. Whole exome sequencing was done, which reported that the baby was carrying a novel homozygous mutation of the Conclusions: Aromatase deficiency is a rare condition. A history of maternal virilization during pregnancy in a child born with atypical genitalia should alert physicians to consider aromatase deficiency.

Indexed as

aromatase deficiencyatypical genitaliaCYP19A1maternal virilizationnovel mutation

Identifiers

PMID40321354
PMCPMC12048141

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.